1
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
|
69% (n=16)
|
24461907
|
IBIS
|
853 / 7739
|
2
|
(HPO:0007039)
|
Symmetric lesions of the basal ganglia |
Frequent [IBIS]
|
64% (n=11)
|
24461907
|
IBIS
|
2 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
rare [HPO:skoehler]
|
50% (n=16)
|
24461907
|
IBIS
|
990 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [IBIS]
rare [HPO:skoehler]
|
38% (n=16)
|
24461907
|
IBIS
|
832 / 7739
|
5
|
(HPO:0003128)
|
Lactic acidosis |
Frequent [IBIS]
|
38% (n=16)
|
24461907
|
IBIS
|
116 / 7739
|
6
|
(HPO:0002490)
|
Increased CSF lactate |
Occasional [IBIS]
|
31% (n=16)
|
24461907
|
IBIS
|
28 / 7739
|
7
|
(HPO:0000486)
|
Strabismus |
Occasional [IBIS]
rare [HPO:skoehler]
|
19% (n=16)
|
24461907
|
IBIS
|
576 / 7739
|
8
|
(HPO:0001251)
|
Ataxia |
Occasional [IBIS]
rare [HPO:skoehler]
|
19% (n=16)
|
24461907
|
IBIS
|
413 / 7739
|
9
|
(HPO:0011441)
|
Abnormality of the medulla oblongata |
Occasional [IBIS]
|
18% (n=11)
|
24461907
|
IBIS
|
4 / 7739
|
10
|
(HPO:0000648)
|
Optic atrophy |
Occasional [IBIS]
rare [HPO:skoehler]
|
13% (n=16)
|
24461907
|
IBIS
|
238 / 7739
|
11
|
(HPO:0002066)
|
Gait ataxia |
Occasional [IBIS]
|
13% (n=16)
|
24461907
|
IBIS
|
327 / 7739
|
12
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
Occasional [IBIS]
rare [HPO:skoehler]
|
13% (n=16)
|
24461907
|
IBIS
|
21 / 7739
|
13
|
(HPO:0004322)
|
Short stature |
Occasional [IBIS]
rare [HPO:skoehler]
|
13% (n=16)
|
24461907
|
IBIS
|
1232 / 7739
|
14
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [IBIS]
|
13% (n=16)
|
24461907
|
IBIS
|
192 / 7739
|
15
|
(HPO:0000602)
|
Ophthalmoplegia |
Occasional [IBIS]
|
13% (n=16)
|
24461907
|
IBIS
|
56 / 7739
|
16
|
(HPO:0001249)
|
Intellectual disability |
Occasional [IBIS]
|
13% (n=16)
|
24461907
|
IBIS
|
1089 / 7739
|
17
|
(HPO:0000505)
|
Visual impairment |
Rare [IBIS]
rare [HPO:skoehler]
|
6% (n=16)
|
24461907
|
IBIS
|
297 / 7739
|
18
|
(HPO:0000750)
|
Delayed speech and language development |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
197 / 7739
|
19
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
116 / 7739
|
20
|
(HPO:0001337)
|
Tremor |
Rare [IBIS]
rare [HPO:skoehler]
|
6% (n=16)
|
24461907
|
IBIS
|
200 / 7739
|
21
|
(HPO:0001629)
|
Ventricular septal defect |
Rare [IBIS]
rare [HPO:skoehler]
|
6% (n=16)
|
24461907
|
IBIS
|
316 / 7739
|
22
|
(HPO:0002317)
|
Unsteady gait |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
45 / 7739
|
23
|
(HPO:0100543)
|
Cognitive impairment |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
230 / 7739
|
24
|
(HPO:0012431)
|
Episodic fatigue |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
1 / 7739
|
25
|
(HPO:0004900)
|
Severe lactic acidosis |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
5 / 7739
|
26
|
(HPO:0000824)
|
Growth hormone deficiency |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
56 / 7739
|
27
|
(HPO:0009058)
|
Increased muscle lipid content |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
6 / 7739
|
28
|
(HPO:0002878)
|
Respiratory failure |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
57 / 7739
|
29
|
(HPO:0002090)
|
Pneumonia |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
59 / 7739
|
30
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
137 / 7739
|
31
|
(HPO:0002061)
|
Lower limb spasticity |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
56 / 7739
|
32
|
(HPO:0006986)
|
Upper limb spasticity |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
15 / 7739
|
33
|
(HPO:0010862)
|
Delayed fine motor development |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
3 / 7739
|
34
|
(HPO:0002194)
|
Delayed gross motor development |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
37 / 7739
|
35
|
(HPO:0000543)
|
Optic disc pallor |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
67 / 7739
|
36
|
(HPO:0003542)
|
Increased serum pyruvate |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
18 / 7739
|
37
|
(HPO:0001578)
|
Hypercortisolism |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
17 / 7739
|
38
|
(HPO:0002893)
|
Pituitary adenoma |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
16 / 7739
|
39
|
(HPO:0001260)
|
Dysarthria |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
329 / 7739
|
40
|
(HPO:0012102)
|
Abnormal mitochondrial number |
Rare [IBIS]
|
6% (n=16)
|
24461907
|
IBIS
|
4 / 7739
|
41
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
24461907
|
IBIS
|
1245 / 7739
|
42
|
(HPO:0002311)
|
Incoordination |
|
|
23499752
|
IBIS
|
84 / 7739
|
43
|
(HPO:0002151)
|
Increased serum lactate |
rare [HPO:skoehler]
|
|
24461907
|
IBIS
|
92 / 7739
|
44
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
24461907
|
IBIS
|
73 / 7739
|
45
|
(HPO:0001324)
|
Muscle weakness |
|
|
24461907
|
IBIS
|
859 / 7739
|
46
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
24461907
|
IBIS
|
482 / 7739
|
47
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
24461907
|
IBIS
|
10 / 7739
|
48
|
(OMIM)
|
Difficulty reading |
|
|
23499752
|
IBIS
|
2 / 7739
|
49
|
(OMIM)
|
Leigh syndrome |
|
|
24461907
|
IBIS
|
7 / 7739
|
50
|
(OMIM)
|
Impaired mitochondrial translation |
|
|
24461907
|
IBIS
|
4 / 7739
|
51
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
24461907
|
IBIS
|
555 / 7739
|
52
|
(HPO:0007663)
|
Reduced visual acuity |
rare [HPO:skoehler]
|
|
24461907
|
IBIS
|
100 / 7739
|
53
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
24461907
|
IBIS
|
187 / 7739
|
54
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
24461907
|
IBIS
|
96 / 7739
|
55
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
24461907
|
IBIS
|
46 / 7739
|
56
|
(HPO:0010522)
|
Dyslexia |
|
|
23499752
|
IBIS
|
7 / 7739
|
57
|
(IBIS)
|
Leigh-like lesions on brain magnetic resonance imaging (MRI) |
|
|
24461907
|
IBIS
|
3 / 7739
|
58
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
23499752
|
IBIS
|
35 / 7739
|
59
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
23499752
|
IBIS
|
31 / 7739
|
60
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
|
|
23499752
|
IBIS
|
10 / 7739
|
61
|
(HPO:0012748)
|
Focal T2 hyperintense brainstem lesion |
|
|
24461907
|
IBIS
|
2 / 7739
|
62
|
(HPO:0007183)
|
Focal T2 hyperintense basal ganglia lesion |
|
|
24461907
|
IBIS
|
6 / 7739
|
63
|
(HPO:0001510)
|
Growth delay |
|
|
24461907
|
IBIS
|
295 / 7739
|
64
|
(OMIM)
|
Abnormal breathing pattern |
|
|
24461907
|
IBIS
|
8 / 7739
|
65
|
(HPO:0005957)
|
Breathing dysregulation |
|
|
24461907
|
IBIS
|
6 / 7739
|
66
|
(MedDRA:10069632)
|
Bladder dysfunction |
|
|
24461907
|
IBIS
|
3 / 7739
|
67
|
(HPO:0012434)
|
Delayed social development |
|
|
24461907
|
IBIS
|
1 / 7739
|
68
|
(OMIM)
|
Subsarcolemmal mitochondrial accumulation |
|
|
24461907
|
IBIS
|
4 / 7739
|